Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3-methylglutaconic aciduria

Journal of Inherited Metabolic Disease

Volumn 29, Issue 4, 2006, Pages 546-550

  Di Rosa, Gabriella ^a,b   Deodato, Federica ^a   Loupatty, Ference J ^c   Rizzo, Cristiano ^a   Carrozzo, Rosalba ^a   Santorelli, Filippo M ^a   Boenzi, Sara ^a   D'Amico, Adele ^a   Tozzi, Giulia ^a   Bertini, Enrico ^a   Maiorana, Andrea ^d   Wanders, Ronald J A ^c   Dionisi Vici, Carlo ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d FATEBENEFRATELLI HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; CARDIOLIPIN;

3 METHYLGLUTACONIC ACIDURIA; ACIDURIA; ARTICLE; CATARACT; CELL CULTURE; CHEMICAL ANALYSIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; ENZYME ANALYSIS; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INFANT; LACTIC ACIDOSIS; LIPID METABOLISM; MALE; MUTATIONAL ANALYSIS; ONSET AGE; PHENOTYPE; SKIN FIBROBLAST; TANDEM MASS SPECTROMETRY;

ACIDOSIS, LACTIC; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; CARDIOMYOPATHY, HYPERTROPHIC; CATARACT; DEVELOPMENTAL DISABILITIES; FAMILY HEALTH; FEMALE; GLUTARATES; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE;

EID: 33746882750     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0279-y     Document Type: Article

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